Refsum's disease (Refsum-Thiébaut disease, Refsum-Thiébaut-Klenk-Kahlke disease), named after Norwegian neurologist Sigvald Bernhard Refsum (1907-1991),[1][2] is neurological disease that results in the malformation of myelin sheaths around nerve cells. It is a peroxisomal disorder.

Presentation

Patients with Refsum's Disease present with neurologic damage, cerebellar degeneration, and peripheral neuropathy. Onset is most commonly in childhood/adolescence with a progressive course, although periods of stagnation/remission occur.

Treatment

The most effective therapy in the classic Refsum disease is dietary treatment with a phytanic acid-restricted diet, such as exclusively avoiding consumption of beef, lamb, fatty fish such as tuna, cod, and haddock [3]. Recent research has shown that CYP4 isoform enzymes could eliminate the phytanic acid storage in vivo[4] and patients could try alternative natural remedies with either eatable marine invertebrates or with clofibrate supplement of which the component is usually rich in the excretion of high plant [5], [6],[7]. Currently, there is no clinical data to approve using this xenonbiotic drug for the treatment, perhaps due to its serious adverse effect [8]and the major medical treatment of the disease only relies on the plasmapheresis.